Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant

Journal of clinical research in pediatric endocrinology - 2 Jun 2021

Gupta Nidhi, Gregory Seth W., Deyle David R., Tebben Peter J.

Abstract excerpt

Osteogenesis imperfecta (OI) is characterized by fractures and progressive bone deformities. Fracture rates peak during the toddler and adolescent years and decline during adulthood but do not stop entirely. We describe a kindred, the affected members of which were the mother and two sons, who presented with an apparently unique phenotype of OI. Our patients demonstrated a pattern of prenatal bone deformities...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone Density Conservation Agents
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type I, alpha 1 Chain

Share to Diphosphonates

Share to Fractures, Bone

Share to Infant

Share to Osteogenesis Imperfecta

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 32519829
DOI: 10.4274/jcrpe.galenos.2020.2020.0012
PMCID: PMC8186326

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 VariantPMID 32519829Read ↗

Osteogenesis imperfecta: diagnosis and treatment.Semantic proximity Read ↗

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findingsSemantic proximity Read ↗

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.Semantic proximity Read ↗

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.Semantic proximity Read ↗

A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.Semantic proximity Read ↗

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2Semantic proximity Read ↗

Discrepancies in the Phenotypical Classification of Osteogenesis Imperfecta in a Patient with COL1A2 Mutation: A Case Report.Semantic proximity Read ↗

Osteogenesis imperfecta.Semantic proximity Read ↗

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.Semantic proximity Read ↗

Rare homozygous SERPINF1 pathogenic variant causing autosomal recessive osteogenesis imperfecta type VI in two unrelated Ecuadorian familiesSemantic proximity Read ↗

Does the Skeletal Phenotype of Osteogenesis Imperfecta Differ for Patients With Non-COL1A1/2 Mutations? A Retrospective Study in 113 Patients.Semantic proximity Read ↗

Current Overview of Osteogenesis Imperfecta.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.